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mit

158

Call and score variants from WGS/WES of rare disease patients.

snv wes wgs nf-core nextflow pipeline workflow diagnostics rare-disease variant-calling variant-annotation structural-variants

Created 2021-06-21

2,676 commits to master branch, last one 3 months ago

31

61

other

4

cfDNApipe: A comprehensive quality control and analysis pipeline for cell-free DNA high-throughput sequencing data

cnv snv cfdna wgs-data wgbs-data cell-free-dna virus-detection

Created 2021-01-11

769 commits to master branch, last one 2 years ago

11

57

unknown

7

Generic human DNA variant annotation pipeline

snv vcf vep gene snvs docker indels vcfanno germline variants workflow singularity annotation-tool variant-annotations annotation-framework disease-gene-association

Created 2017-01-21

98 commits to master branch, last one 10 months ago